Fibrodyplasia Ossificans Progressiva is an extremely rare genetic disease in which the body’s muscles, tendons, ligaments and other connective tissues transform into bone. Throughout the aging process, FOP ultimately causes permanent immobility of the body, people are unable to move or bend effected areas of the body. This crippling disease although rare is life threatening and needs to be cured. Although scientists are now able to identify the cause, more research is needed to fully understand the cause and create an effective treatment.
This medical anomaly is so rare that only recently a cause has been identified. After fifteen years of research University of Pennsylvania’s orthopedic surgeon Frederick Kaplan, M.D., his research team have found the faulty gene responsible for the mutation ("Fibrodysplasia Ossificans Progressiva”) the mutation in the ACVR1 gene causes fibrodysplasia ossificans progressiva. The ACVR1 gene is found in many tissues including skeletal muscle and cartilage. It plays a role in the growth of bones and muscles. It’s also involved in the bone formation from birth to adulthood, specifically the change from cartilage to bone. It is currently understood that the mutation in the gene may cause changes in specific bone receptors. The receptors are what turn bone formation on and off. The mutation in the gene causes the receptor to be turned on constantly; this causes the overgrowth of bone over cartilage. It’s the problem that causes joints to fuse, and bone sheaths to form over other bone (“ACVR1).
The disease is extremely rare, worldwide approximately 1 in 1.6 million people effected. No proven correlation between age, race, gender, ethnic background or geographic location.
One of the first documented ...
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...ibrodysplasia Ossificans Progressiva." Clinical Reviews in Bone and Mineral Metabolism. Vol. 3. Humana, 2005. 252-54. PDF file.
Kaplan, Frederick. “The Phenotype of Fibrodysplasia Ossificans Progressiva” Clinical Reviews in Bone and Mineral Metabolism. Vol. 3. Humana, 2005. 182-86. PDF file.
"FOP Skeleton." FOP Skeleton. 2009. Web. 15 Apr. 2014. .
Kaplan, Frederick. “An Historical Perspective” Clinical Reviews in Bone and Mineral Metabolism. Vol. 3. Humana, 2005. 179-80. PDF file.
Kaplan, Frederick S., et al. "Early diagnosis of fibrodysplasia ossificans progressiva." Pediatrics 121.5 (2008): e1295-e1300.
University of California - San Francisco. "Study Highlights The Ramifications Of Medical Misdiagnosis." ScienceDaily. ScienceDaily, 8 November 2005. .
Ooi, C., & Fraser, W. (1997). Paget's disease of bone. The Fellowship of Postgraduate Medicine, 73, 69-74. Retrieved June 12, 2010, from the PubMed database.
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder (Kartal-Kaess et al., 2010). This means that the disorder is hereditary; an individual can only get the disorder if one of the parents has it and passes it on to the offspring. The main characteristic of this disorder is the hardening of skeletal muscles, connective tissue, tendons, and ligaments (Kartal-Kaess et al., 2010). The skeletal muscles, connective tissue, tendons and ligaments start to progressively become bone. Skeletal muscles, connective tissue, tendons and ligaments are places where bone does not grow in regular individuals that do not have FOP. Other characteristics of FOP include benign tumor composed of bone and cartilage in the tibia, abnormal growth on the cervical spine, wide and small femoral necks and hearing loss (Kartal-Kaess et al., 2010).
Not all attributes are obvious for every situation. The lion's share of instances of OI (conceivably 85-90 %) are created by a predominant change in a quality coding for sort I collagen (Types I, II, III, and IV in the accompanying rundown). Sorts VII and VIII are recently recognized structures that are acquired in a passive way. The qualities bringing about these two sorts have been recognized. Sorts V and VI don't have a sort 1 collagen change, however the qualities bringing about them have not yet been recognized. The general components of each referred to sort of OI are as per the
Jones knows about osteoporosis, it is imperative to assess her knowledge. In addition, assessing her dietary intake of calcium is important to ensure she is properly getting the calcium needed for rebuilding of bones. Educating the patient on the use of Mylanta for her acid reflux can decrease the absorption of calcium therefore, preventing bone rebuilding. This is very important for Mrs. Jones as she has lost one and a half inches in height since her last visit. In addition, fall prevention should be stressed to Mrs. Jones. According to Cappola and Shoback (2016) forty six percent of women over fifty will sustain a fracture related to osteoporosis. Therefore, prevention is vital for Mrs. Jones. In addition, Mrs. Jones needs to be educated on the importance of weight bearing exercises, increased intake of calcium and vitamin D, and fall prevention (Cappola & Shoback,
Neurofibromatosis Type 1 is one of the most common genetic disorders affecting more than 100,000 Americans. Although the majority of cases show a distinct inheritance pattern, still 30-40 percent of cases arise from spontaneous mutation in the Nf1 gene. Common symptoms of the disease include brown spots on the skin known as café au lait spots, neurofibromas, growths on the eyes and optic nerve, and abnormal development of the spine, skull, and tibia. Around 50 percent of patients with Neurofibromatosis type 1 suffer from painful skeletal manifestations due to abnormal development of the bones. The exact cause of the skeletal abnormalities associated with the disease is still unclear, but the lesions are thought to result from bone cell autonomous mutations, in which only the genotypically altered bone cells are affected.
PD is described by a confined, disproportionate, and uncontrolled osteoclastic bone resorption. This results in subsequent compensatory augmented osteoblastic activity, ultimately resulting in an unstable, unstructured fibroblastic and biomechanical less stable bone.3 However, the precise pathophysiology of PDB still remains to be established. It is believed that PD may result from genetic alterations that could account for its presence in multiple family members.4 Other studies also hypothesize that paramyxovirus infection is the etiologic agent of the disorder.5
Credibility statement: I may not look like an expert of any sort, but I have personally seen how this disease takes over the body in my own grand-mother.
Diagnosis of osteonecrosis of femoral head is done clinically by pain around the hip, gradual limitation of motions, radiographic criteria and staging of Ficat and Arlet. Radionuclide Scintigraphy (99 mTc Di-phosphonate ) can be done especially for diagnosis in the early stages of osteonecrosis, CT to detect the early details of bone changes, MRI to record very early marrow necrosis not detectable by CT and tests for haemodynamic functions (intramedullary pressure measurements and venography) for vascular stasis.
My patient is a 55-year-old woman presenting to the clinic complaining of episodes of feeling “hot and sweaty” during the day and is waking up at night soaked with perspiration. Because her sleep is so disrupted, she is tired all day and is having trouble concentrating at work. She says that the episodes are becoming unbearable and is seeking treatment for them. In a very thorough assessment I will gain information in regards to possible Osteoporosis.
Osteoporosis is a disease of the bone. The bones become weak and brittle and are prone to fractures. A person with osteoporosis can fracture a bone just by hitting a table or turning while in bed. Most people with osteoporosis keep on getting fractures because the weight of the body cannot be supported by the bone and normal body movements, including walking, will strain the bone. This condition arises when the rate of bone growth cannot keep pace with bone loss. Osteoporosis can affect any bone including the hip, wrist or spine.
Tamparo, C. D. & Lewis, M. A. (2011). Diseases of the human body. Philadelphia, PA: F.A. Davis Company.
11. Following her recovery, Margaret was placed on three medications: (A) oral calcium supplementation, (B) oral estrogen, and (C) oral alendronate sodium (Fosamax). Specifically describe how each of these medications works to treat Margaret’s condition. Oral calcium is given to Margaret to help with the loss of bone tissue and to help with the aid of forming stronger bone tissue. Oral estrogen is for to help make up for the loss of estrogen deficiency in her body due to menopause and this drug also helps to prevent weakened bones and due to the lack of activity Margert is accustomed to this will be beneficial for her. Oral alendronate sodium is for an inhibitor to help with bone reabsorption of
Kolb, M.D., A. E. (n.d.). What is Osteopetrosis?. Mason Shaffer Foundation || Save a Life ... Donate Cord Blood. Retrieved November 27, 2011, from http://masonshafferfoundation.org
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Collagen is the main protein that works toward the production of connective tissue. Individuals with this disorder will produce less collagen than needed, which causes the bone development to be endangered. This could result in bone deformities. There are four types of osteogenesis imperfecta, and in all four types you will see bone fragility with multiple fractures and bone deformities.
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory